Zobrazeno 1 - 10
of 251
pro vyhledávání: '"D. Johnsen"'
Publikováno v:
Molecular Therapy: Nucleic Acids, Vol 22, Iss , Pp 263-272 (2020)
Dystrophin plays a crucial role in maintaining sarcolemma stability during muscle contractions, and mutations that prevent the expression of a functional protein cause Duchenne muscular dystrophy (DMD). Antisense oligonucleotide-mediated manipulation
Externí odkaz:
https://doaj.org/article/5194b4eb8cc142648cdf40c35c8296d1
Autor:
Kelly M. Martinovich, Anthony Kicic, Stephen M. Stick, Russell D. Johnsen, Sue Fletcher, Steve D. Wilton
Publikováno v:
Frontiers in Pharmacology, Vol 13 (2022)
Introduction: Severity and disease progression in people with Cystic Fibrosis (CF) is typically dependent on their genotype. One potential therapeutic strategy for people with specific mutations is exon skipping with antisense oligonucleotides (AO).
Externí odkaz:
https://doaj.org/article/a0021259ab664828891fea13507550e8
Publikováno v:
BMC Medical Education, Vol 18, Iss 1, Pp 1-9 (2018)
Abstract Background Research on student wellness has highlighted the importance of self-care for medical students; however, scholars have yet to identify the extent to which self-reported engagement in self-care behaviors is associated with attenuati
Externí odkaz:
https://doaj.org/article/ee43b03a818b4197ac88ef03d172c325
Autor:
Stephanie Birgit Burgmann, Markus Joakim Lid, Håkon J. D. Johnsen, Nils Petter Vedvik, Bjørn Haugen, J Provine, Antonius T. J. van Helvoort, Jan Torgensen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d4600a9a012c4f3a9206d8dfe4b00670
https://doi.org/10.2139/ssrn.4365894
https://doi.org/10.2139/ssrn.4365894
Publikováno v:
Methods in Molecular Biology ISBN: 9781071627716
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::36c967ce74bf5971bdd3553b8d540206
https://doi.org/10.1007/978-1-0716-2772-3_14
https://doi.org/10.1007/978-1-0716-2772-3_14
Publikováno v:
Methods in molecular biology (Clifton, N.J.). 2587
The mutation c.-32-13TG in the GAA gene impacts normal exon 2 splicing and is found in two-thirds of late-onset Pompe disease cases. We have explored a therapeutic strategy using splice modulating phosphorodiamidate morpholino oligomers to enhance GA
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::3a3fb4950c1b18438022eac9d8960a2a
https://pubmed.ncbi.nlm.nih.gov/36401034
https://pubmed.ncbi.nlm.nih.gov/36401034
Autor:
Steve D. Wilton, Michel Tchan, Sue Fletcher, May T. Aung-Htut, Kristin A. Ham, Frederick J. Schnell, Russell D. Johnsen
Publikováno v:
Scientific Reports, Vol 10, Iss 1, Pp 1-12 (2020)
Scientific Reports
Scientific Reports
Pompe disease is caused by mutations in the GAA gene, resulting in deficient lysosomal acid-α-glucosidase activity in patients, and a progressive decline in mobility and respiratory function. Enzyme replacement therapy is one therapeutic option, but
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::baa4a767db12372d72f63a7d949ec7d6
http://link.springer.com/article/10.1038/s41598-020-63461-2
http://link.springer.com/article/10.1038/s41598-020-63461-2
Publikováno v:
Optics Express
Line-focus solar concentrators have traditionally been limited by the 2D concentration limit due to the continuous translational symmetry in these systems. This limit is orders of magnitude lower than the 3D limit, severely limiting the achievable co
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9430364dcbaf000939702c82a5370a40
https://hdl.handle.net/11250/3039959
https://hdl.handle.net/11250/3039959
Autor:
Gregory D. Johnsen
Publikováno v:
SIRIUS – Zeitschrift für Strategische Analysen. 3:287-292
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::30944c5c5cbc7756f4792a6195618421
https://doi.org/10.1515/sirius-2019-3009
https://doi.org/10.1515/sirius-2019-3009
Autor:
Yue-Bei Luo, Chalermchai Mitrpant, Abbie M Adams, Russell D Johnsen, Sue Fletcher, Frank L Mastaglia, Steve D Wilton
Publikováno v:
PLoS ONE, Vol 9, Iss 6, p e98306 (2014)
We sought to use splice-switching antisense oligonucleotides to produce a model of accelerated ageing by enhancing expression of progerin, translated from a mis-spliced lamin A gene (LMNA) transcript in human myogenic cells. The progerin transcript (
Externí odkaz:
https://doaj.org/article/9add1f9fedcb42bf851408035e7bef7b